The Experiences and Needs of Individuals with a Variant of Uncertain Significance on Genetic Tests for Hereditary Cancer Syndromes:A Grounded Theory Study.

OBJECTIVES

The use of multigene panel testing to identify hereditary cancer susceptibility has led to a growing number of individuals receiving a variant of uncertain significance (VUS) result. This qualitative study aimed to describe the experiences of individuals with a VUS, with a focus on their communication with healthcare providers (HCPs) and family members.

METHODS

This study employed a constructivist grounded theory approach. Participants (N = 20) were recruited between January and July 2021 through social media and nonprofit organizations. Data were collected using semistructured interviews and verified transcripts.

RESULTS

Categories identified included motivations, communication with family, family characteristics, communication with HCPs, other factors affecting the testing experiences, feelings about having a VUS, recall and understanding of the test result and its implications, coping strategies used, and risk management strategies used.

CONCLUSIONS

The proposed theoretical model included the key themes impacting the experience: context; decision-making; communication with HCPs and family; and the need for knowledgeable and trustworthy providers; met emotional needs; and open lines of communication. This model provides a framework to be used to meet the needs of individuals with VUS from pre- to post-testing process.

IMPLICATIONS FOR NURSING PRACTICE: The proposed theoretical model offers guidance for structuring patient-centered care, emphasizing the importance of trust, continuity, and accessible support from pre- to post-testing. Integrating this framework into nursing practice can enhance patient understanding, reduce uncertainty, and promote informed decision-making regarding risk management.